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Gene regulation and genetic defects in the pyruvate dehydrogenase complex.
[pyruvate dehydrogenase deficiency]
The
mammalian
pyruvate
dehydrogenase
complex
(
PDC
)
is
subject
to
both
short
-term
(
product
inhibition
and
covalent
modification
)
and
long
-term
(
increases
in
total
activity
and
protein
mass
)
regulation
mediated
by
dietary
and
hormonal
treatments
.
Recent
advances
in
the
isolation
and
characterization
of
the
complementary
DNAs
as
well
as
genes
encoding
several
components
of
mammalian
PDC
have
facilitated
studies
concerning
long
-term
regulation
of
PDC
.
Analyses
of
the
promoter-regulatory
regions
of
the
two
human
PDC
genes
show
characteristics
of
both
facultative
and
housekeeping
gene
promoters
,
indicating
complex
transcriptional
regulation
.
Deficiency
of
PDC
activity
causes
a
wide
range
of
neurological
disabilities
.
A
spectrum
of
genetic
defects
in
PDC
components
has
been
reported
;
however
,
the
most
frequent
defects
are
associated
with
the
pyruvate
dehydrogenase
component
.
Heterogeneity
in
pyruvate
dehydrogenase
deficiency
has
been
shown
to
occur
at
both
protein
and
messenger
RNA
levels
,
and
several
mutations
in
pyruvate
dehydrogenase
have
been
identified
.
Dietary
treatments
such
as
ketogenic
diets
and
vitamin
supplements
as
well
as
dichloroacetate
treatment
have
been
utilized
to
treat
PDC
deficiency
,
but
their
efficacy
requires
further
evaluation
.
